Laboratory aspects of prenatal microarray analysis

Clinics in Laboratory Medicine

Volumn 31, Issue 4, 2011, Pages 615-630

  Lamb, Allen N ^a,b  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Abnormal ultrasound; Amniocytes; Array comparative genomic hybridization; Chorionic villi; Maternal cell contamination; Prenatal microarrays

Indexed keywords

AMNIOCENTESIS; AMNION CELL; AMNION FLUID ANALYSIS; CHORION VILLUS; CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONCEPTION; COPY NUMBER VARIATION; DECIDUA; DNA MICROARRAY; DNA REPLICATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DOSAGE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENOME; GENOTYPE; HUMAN; INHERITANCE; KARYOTYPE; MATERNAL BLOOD; MATERNAL CARE; MATERNAL CELL CONTAMINATION ANALYSIS; OLIGONUCLEOTIDE BASED ARRAY; PRACTICE GUIDELINE; PRENATAL DEVELOPMENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; ULTRASOUND; VALIDATION STUDY; X CHROMOSOME; Y CHROMOSOME;

COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 82355171950     PISSN: 02722712     EISSN: 15579832     Source Type: Journal    
DOI: 10.1016/j.cll.2011.08.004     Document Type: Review

References (43)

1. Lee C., Scherer S.W. The clinical context of copy number variation in the human genome. Expert Rev Mol Med 2010, 12:e8.
2. Mefford H.C., Eichler E.E. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 2009, 19:196-204.
3. Girirajan S., Eichler E. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 2010, 19:R176-R187.
4. Sharp A.J. Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat 2009, 30:135-144.
5. Stankiewicz P., Lupski J.R. Structural variation in the human genome and its role in disease. Annu Rev Med 2010, 61:437-455.
6. Miller D.T., Adam M.P., Aradhya S., et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010, 86:749-764.
7. Manning M., Hudgins L. Array based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities (ACMG Practice Guidelines). Genet Med 2010, 12:742-745.
8. Ogilvie C.M., Yaron Y., Beaudet A.L. Currrent controversies in prenatal diagnosis: 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping?. Prenat Diag 2009, 29:11-14.
9. Gerkas J., van den Berg D.G., Durand A., et al. Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities. Eur J Hum Genet 2011, 19:3-9.
10. Friedman J.M. High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 2009, 29:20-28.
11. Pergament E. Controversies and challenges of array comparative genomic hybridization in prenatal genetic diagnosis. Genet Med 2007, 9:596-599.
12. Veermeech J.R. Prenatal diagnosis by microaray analysis. Genetic disorders and the fetus 2010, 365-379. Wiley-Blackwell, West Sussex (UK). 6th edition. A. Milunsky, J. Milunsky (Eds.).
13. Savage M.S., Mourad M.J., Wapner R.J. Evolving applications of microarray analysis in prenatal diagnosis. Curr Opin Obstet Gynecol 2011, 23:103-108.
14. Fruhman G., van der Veyver I.B. Applications of Array comparative genomic hybridization in obstetrics. Obstet Gynecol Clin North Am 2010, 37:71-85.
15. Elias S. Amniocentesis and fetal blood sampling. Genetic disorders and the fetus 2010, 63-93. Wiley-Blackwell, West Sussex (UK). 6th edition. A. Milunsky, J. Milunsky (Eds.).
16. Monni G., Ibba R.M., Zoppi M.A. Prenatal genetic diagnosis through chorionic villous sampling. Genetic disorders and the fetus 2010, 160-193. Wiley-Blackwell, West Sussex (UK). 6th edition. A. Milunsky, J. Milunsky (Eds.).
17. van Dyke D.L. Amniotic fluid cell culture. Genetic disorders and the fetus 2010, 138-159. Wiley-Blackwell, West Sussex (UK). 6th edition. A. Milunsky, J. Milunsky (Eds.).
18. Kalousek D.K., Vekemans M. Confined placental mosaicism. J Med Genet 1996, 33:529-533.
19. Hahnemann JM, Vejerslev LO. Accuracy of cytogenetic findings on chorionic villus sampling (CVS)-Diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. 1997;17:801-20.
20. Smith K., Lowther G., Maher E., et al. The predictive value of findings of the common aneuploidies, trisomies 13, 18, and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study. Prenat Diag 1999, 19:817-826.
21. Nagan N., Faulkner N.E., Curtis C., et al. Laboratory guidelines for detection, interpretation, and reporting of maternal cell contamination in prenatal analyses a report of the association for molecular pathology. J Mol Diagn 2011, 13:7-11.
22. Schrijver I., Cherny S.C., Zehnder J.L. Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. J Mol Diagn 2007, 9:394-400.
23. Ballif B.C., Rorem E.A., Sundin K., et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006, 140:2757-2767.
24. Cheung S.W., Shaw C.A., Scott D.A., et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 2007, 143:1679-1686.
25. Scott S.A., Cohen N., Brandt T., et al. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med 2010, 12:85-92.
26. Estabrooks L.L., Sanford Hanna J., Lamb A.N. Overwhelming maternal cell contamination in amniotic fluid samples from patients with oligohydramnios can lead to false prenatal interphase FISH results. Prenat Diagn 1999, 19:179-181.
27. van Bon B.W., Mefford H.C., Menten B., et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009, 46:511-523.
28. Shaffer L.G., Beaudet A.L., Brothman A.R., et al. Microarray analysis for constitutional cytogenetic abnormalities. Genet Med 2007, 9:654-662.
29. ACOG Committee Opinion No. 446: Array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol 2009, 114:1161-1163.
30. Hillman S.C., Pretlove S., Coormarasamy A., et al. Additional information from array comparative hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2011, 37:6-14.
31. Savage M.S., Mourad M.J., Wapner R.J. Evolving applications of microarray analysis in prenatal diagnosis. Curr Opin Obstet Gynecol 2011, 23:103-108.
32. Veermeesch J.R. Prenatal diagnosis by microarray analysis. Genetic disorders and the fetus 2010, 365-379. Wiley-Blackwell, West Sussex (UK). 6th edition. A. Milunsky, J. Milunsky (Eds.).
33. Fruhman G., van den Veyver I.B. Applications of array comparative genomic hybridization in obstetrics. Obstet Gynecol Clin North Am 2010, 37:71-85.
34. Sahoo T., Cheung S.W., Ward P., et al. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 2006, 8:719-727.
35. Shaffer L.G., Coppinger J., Alliman S., et al. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 2008, 28:789-795.
36. Van den Veyver I.B., Patel A., Shaw C.A., et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 2009, 29:29-39.
37. Coppinger J., Alliman S., Lamb A.N., et al. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn 2009, 29:1156-1166.
38. Kleeman L., Bianchi D., Shaffer L.G., et al. Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. Prenat Diagn 2009, 29:1213-1217.
39. Tyreman M., Abbott K.M., Willatt L.R., et al. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. J Med Genet 2009, 46:531-541.
40. Darilek S., Ward P., Pursley A., et al. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling issues. Genet Med 2008, 10:13-18.
41. Kleefstra T., van Zelst-Stams W.A., Nillesen W.M., et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet 2009, 46:598-606.
42. Tzaschach A., Menzel C., Erdogan F., et al. Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. Am J Med Genet 2010, 152A:1008-1012.
43. Leipoldt M., Erdel M., Bien-Willner G.A., et al. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet 2007, 71:67-75.